A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

Clinical and genetic analysis of two Chinese infants with Mabry syndrome

(2016) Jiao Xue et al.   BRAIN & DEVELOPMENT

PIGOmutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

(2014) Kazuyuki Nakamura et al.   EPILEPSIA

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

(2013) Lars Hansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

(2013) I. Kuki et al.   NEUROLOGY

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

(2012) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

(2011) Denise Horn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress

(2008) T. Kinoshita et al.   JOURNAL OF BIOCHEMISTRY